Clinical Trial: Natural History and Genotype-Phenotype Correlations in Mitochondrial Leukoencephalopathies

U.S., Oct. 10 -- ClinicalTrials.gov registry received information related to the study (NCT07868796) titled 'Natural History and Genotype-Phenotype Correlations in Mitochondrial Leukoencephalopathies' on Feb. 17.

Brief Summary: Mitochondrial disorders (MDs) are among the most common inherited metabolic diseases, caused by genetic defects in mitochondrial or nuclear DNA that impair cellular energy production. The central nervous system (CNS) is frequently affected, due to its high energy demands. Within the broad clinical spectrum of MDs, mitochondrial leukoencephalopathies (MLs) have emerged as a distinct subgroup characterized by CNS white matter involvement.

MLs are clinically and genetically heterogeneous, with onset ranging from infan...